Biology subjects

Diana, M. A.

Publications and source records attributed to Diana, M. A..

4 recordsLinked to original sources

bioRxiv2026

COLSTATS: an interactive web platform for systematic colocalization of GWAS and QTL summary statistics

Colocalization of GWAS with QTL data is pivotal for identifying shared genetic determinants of molecular traits and diseases yet remains hindered by fragmented data sources and technical barriers. COLSTATS addresses this gap by offering a web-based Shiny platform that integrates 1,648,851 harmonized summary statistic datasets from key resources (GWAS Catalog, UK Biobank, GTEx, BluePrint, eQTLGen, and immune-phenotype studies), all formatted as VCFs aligned to hg38 with uniform chr_pos_ref_alt variant identifiers. Users can interactively select two traits, specify a genomic region or gene, define priors, and execute colocalization via coloc.abf, with results displayed in tabular and graphical form, downloadable as PDF, CSV, or PNG. The system includes result caching, history tracking, and an intuitive interface for streamlined exploration.COLSTATS is freely accessible at https://colstats.irgb.cnr.it. This resource empowers researchers, including non-bioinformaticians, to perform transparent and reproducible colocalization analyses efficiently.

bioinformatics↗

bioRxiv2023

A cortico-subcortical loop for motor control via the pontine reticular formation

Movement and locomotion are controlled by large neuronal circuits like the cortex-basal ganglia (BG)-thalamus loop. Inhibitory output of the BG loop can directly control movement via specialized connections with the brainstem. Whether other parallel loops with similar logic exist is presently unclear. Here we demonstrate that glycine transporter 2-positive (GlyT2+) cells of the pontine reticular formation (PRF) receive cortical inputs and in turn innervate the thalamus. Thalamus-projecting GlyT2+ cells innervate subcortical regions distinct from BG targets. Cortical cells co-innervate PRF/GlyT2+ cells and thalamus as in the BG loops. Cortex exerts strong excitatory control on PRF/GlyT2+ cells and these neurons powerfully inhibit their thalamic targets. Activation of thalamus projecting PRF/GlyT2+ cells leads to contralateral turning. These results demonstrate that the PRF is part of a cortico-subcortical loop that regulates motor activity parallel to the BG circuits. The cortico-PRF-thalamus loop can synergistically control turning with the BG loops via distinct descending pathways. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=190 HEIGHT=200 SRC="FIGDIR/small/552594v2_ufig1.gif" ALT="Figure 1"> View larger version (25K): org.highwire.dtl.DTLVardef@fa1ed8org.highwire.dtl.DTLVardef@ff110dorg.highwire.dtl.DTLVardef@1b88ed7org.highwire.dtl.DTLVardef@1aa02a8_HPS_FORMAT_FIGEXP M_FIG C_FIG

neuroscience↗

bioRxiv2023

Persistently increased post-stress activity of paraventricular thalamic neurons is essential for the emergence of stress-induced maladaptive behavior

ABSTRACTTraumatic events can immediately lead to debilitating symptoms collectively called Acute Stress Disorder (ASD), however the mechanisms of ASD are poorly understood. Using a rodent model of ASD here we identify a crucial communication bottleneck between the brainstem and the forebrain, the calretinin-positive neurons in the paraventricular thalamus (PVT/CR+), that controls ASD. We show that following a single acute stress event, the pre-sleep behavior of the mice is altered for several days in parallel with a persistent increase in the firing rate of PVT/CR+ cells. Optogenetic inhibition of PVT/CR+ neuronal activity after the stress event for one hour was sufficient to rescue both the ASD symptoms and the prolonged increase in PVT/CR+ firing rate. Inhibition applied 5 days later was still able to ameliorate some of the symptoms. These data suggest that post-stress activity of PVT/CR+ neurons play a critical role in mediating the acute forms of stress-related affective dysfunctions. One-Sentence SummaryPost-stress inhibition of paraventricular thalamic neurons prevents the emergence of acute stressed phenotype.

neuroscience↗

bioRxiv2018

Active intermixing of indirect and direct neurons builds the striatal mosaic

The striatum controls behaviors via the activity of direct and indirect pathway projection neurons (dSPN and iSPN) that are intermingled in all compartments. While such mosaic ensures the balanced activity of the two pathways, how it emerges remains largely unknown. Here, we show that both SPN populations are specified embryonically and progressively intermix through multidirectional iSPN migration. Using conditional mutants of the dSPN-specific transcription factor Ebf1, we found that inactivating this gene impaired selective dSPN properties, including axon pathfinding, whereas molecular and functional features of iSPN were preserved. Remarkably, Ebf1 mutation disrupted iSPN/dSPN intermixing, resulting in an uneven distribution. Such architectural defect was selective of the matrix compartment, revealing that intermixing is a parallel process to compartment formation. Our study reveals that, while iSPN/dSPN specification is largely independent, their intermingling emerges from an active migration of iSPN, thereby providing a novel framework for the building of striatal architecture.

neuroscience↗